Autism arises in early childhood, during a period of intense learning when many of the brain’s connections are modified by experience. Several autism-associated proteins also play important roles in memory formation.
In this study, Carolyn Bridgemohan and colleagues assessed the feasibility of using platelet serotonin and urinary melatonin levels as biomarkers in children with ASD, including evaluating potential associations between these biochemical measures with physical, behavioral and cognitive profiles.
The Autism Biomarkers Consortium for Clinical Trials (ABC-CT) is a multicenter research study that aims to develop reliable and objective measurements of social function and communication in people with autism.
Ivan Iossifov studies the genetics of autism using the large datasets produced with comparative genomic hybridization, whole-exome and whole-genome sequencing of the extensively phenotyped Simons Simplex Collection.
To understand the neurobiology behind autism, we need data at the cellular level. This is difficult to come by in humans, as the data are typically limited to analyses of postmortem tissue, or data from animal models. However, there is an opportunity to obtain physiological data directly from neurons in the human brain in a clinical setting — through depth electrode and surface grid monitoring in neurosurgical patients for the treatment of medically refractory epilepsy. This project involves several hospitals where such data can be recorded.
Understanding how genetic defects that cause autism lead to abnormal neurodevelopment is critical to developing mechanism-based treatments. One particularly important question is whether different genetic defects produce autism traits in completely different ways, or whether alterations in different genes trigger a cascade of cellular changes that overlap and ultimately lead to autism by the same biochemical mechanism. JamesGusella and his colleagues at Massachusetts General Hospital aim to explore this question by using cutting-edge genome modification techniques to compare the effects of different autism-linked genetic traits in cultured human stem cells and neurons.
Understanding the emotional state of a person one is communicating with stands at the center of meaningful and successful human interaction, and speech serves as a conduit for conveying critical emotional information in everyday communication. Social communication deficits constitute a core characteristic of children with autism. Research has identified a specific impairment in interpreting the emotional content of speech, known as affective prosody, in individuals with autism. Little is known about the biological basis for affective prosody difficulties in children with autism.
A core symptom of autism involves impaired social relationships. One reason for this may be that individuals with autism do not experience the typical rewarding aspects of social interactions. Specific brain areas are critical for experiencing such social pleasures and specific brain chemicals may be important for promoting social interactions.
Genetics is important in the etiology of autism, with many identified candidate genes linking autism to synaptic pathology. Although understanding autism at the level of genes and synapses is essential, developing novel therapeutics requires an understanding of the dysfunction of neural circuits that control autism-related behavior. This entails knowledge of the affected neuronal subtypes and how their interactions may be disrupted in distinct brain regions and developmental stages.
The development of safe and effective new treatments for social impairments in autism is an important priority. Oxytocin and noninvasive brain stimulation hold great promise as potential therapies for social deficits in autism. The safety, effectiveness and basis of these new therapies remain poorly understood.